ClinVar Miner

List of variants studied for hyper-IgM syndrome type 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_020661.4(AICDA):c.-84A>G rs1345004 0.99525
NM_020661.4(AICDA):c.*1453_*1454insG rs201738977 0.01403
NM_001250.5(CD40):c.-69delT rs11569300 0.01244
NM_020661.4(AICDA):c.428-4_428-3insT rs755095913 0.00272
NM_001250.6(CD40):c.*119C>T rs746182207 0.00004
NM_001250.6(CD40):c.*216A>C rs886056719 0.00004
NM_001250.6(CD40):c.*338A>G rs886056721 0.00003
NM_001250.6(CD40):c.647-4_647-3dup rs749590513
NM_020661.4(AICDA):c.428-17_428-16dup rs5796316
NM_020661.4(AICDA):c.428-17dup rs5796316
NM_080911.3(UNG):c.*500C>G rs780337127
NM_080911.3(UNG):c.*788dup rs200602841
NM_080911.3(UNG):c.*866AT[5] rs56185014
NM_080911.3(UNG):c.*866AT[9] rs56185014

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